Mutagenetix > Incidental Mutation

Incidental Mutation 'R6654:Prkacb'

526550

Institutional Source

Beutler Lab

Gene Symbol

Prkacb

Ensembl Gene

ENSMUSG00000005034

Gene Name

protein kinase, cAMP dependent, catalytic, beta

Synonyms

Pkacb, cAMP-dependent protein kinase C beta

MMRRC Submission

044775-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.494) question?

Stock #

R6654 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146435334-146518691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146456298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 145 (V145A)

Ref Sequence

ENSEMBL: ENSMUSP00000142490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005164] [ENSMUST00000102515] [ENSMUST00000106137] [ENSMUST00000106138] [ENSMUST00000197616] [ENSMUST00000199722]

AlphaFold

P68181

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005164
AA Change: V167A

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000005164
Gene: ENSMUSG00000005034
AA Change: V167A

Domain	Start	End	E-Value	Type
S_TKc	91	345	1.07e-105	SMART
S_TK_X	346	398	2.47e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102515
AA Change: V120A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000099573
Gene: ENSMUSG00000005034
AA Change: V120A

Domain	Start	End	E-Value	Type
S_TKc	44	298	5.3e-108	SMART
S_TK_X	299	344	2.1e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106137
AA Change: V107A

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101743
Gene: ENSMUSG00000005034
AA Change: V107A

Domain	Start	End	E-Value	Type
S_TKc	31	285	1.07e-105	SMART
S_TK_X	286	338	2.47e-9	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106138
AA Change: V108A

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101744
Gene: ENSMUSG00000005034
AA Change: V108A

Domain	Start	End	E-Value	Type
S_TKc	32	286	1.07e-105	SMART
S_TK_X	287	339	2.47e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144369

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197616
AA Change: V145A

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142490
Gene: ENSMUSG00000005034
AA Change: V145A

Domain	Start	End	E-Value	Type
Pfam:Pkinase	69	189	4.6e-27	PFAM
Pfam:Pkinase_Tyr	69	189	1.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199722
AA Change: V62A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000143303
Gene: ENSMUSG00000005034
AA Change: V62A

Domain	Start	End	E-Value	Type
STYKc	1	106	1.5e-6	SMART

Meta Mutation Damage Score

0.4013

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

97% (35/36)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the serine/threonine protein kinase family. The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase, which mediates signalling though cAMP. cAMP signaling is important to a number of processes, including cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygotes for a targeted null mutation eliminating the Cbeta1 subunit exhibit impaired hippocampal plasticity, including failure of low frequency stimulation to produce lasting depression and the elimination of mossy fiber long term potentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Armc6	T	C	8: 70,684,025 (GRCm39)	E9G	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Ddc	A	T	11: 11,830,452 (GRCm39)	I64N	probably damaging	Het
Exd1	T	A	2: 119,355,198 (GRCm39)		probably null	Het
Gm4847	C	A	1: 166,457,956 (GRCm39)	G466C	probably damaging	Het
Gm5431	T	C	11: 48,785,427 (GRCm39)	D316G	possibly damaging	Het
Gsta4	T	C	9: 78,116,381 (GRCm39)	F197L	probably damaging	Het
Irs2	A	G	8: 11,056,486 (GRCm39)	Y649H	probably damaging	Het
Kif16b	T	C	2: 142,543,197 (GRCm39)		probably benign	Het
Krtap12-1	T	C	10: 77,556,537 (GRCm39)		probably benign	Het
Ktn1	G	A	14: 47,927,457 (GRCm39)	S537N	probably damaging	Het
Med12l	G	T	3: 59,169,713 (GRCm39)	G1626W	probably damaging	Het
Mfng	T	A	15: 78,643,539 (GRCm39)	T223S	probably damaging	Het
Msh3	T	C	13: 92,481,550 (GRCm39)	T321A	probably benign	Het
Myo7b	T	C	18: 32,123,322 (GRCm39)	I672V	possibly damaging	Het
Nbas	C	T	12: 13,533,875 (GRCm39)	Q1837*	probably null	Het
Nlrc4	G	A	17: 74,752,523 (GRCm39)	A620V	possibly damaging	Het
Nubpl	T	A	12: 52,357,516 (GRCm39)	V310E	probably damaging	Het
Or4p21	T	G	2: 88,277,016 (GRCm39)	T89P	possibly damaging	Het
Or5aq6	A	G	2: 86,923,394 (GRCm39)	S116P	probably benign	Het
P2ry12	A	G	3: 59,125,441 (GRCm39)	L78P	probably damaging	Het
Pira1	A	T	7: 3,738,928 (GRCm39)	S560T	probably benign	Het
Pkd1l3	T	G	8: 110,350,915 (GRCm39)	S587A	probably benign	Het
Potefam1	T	A	2: 111,002,229 (GRCm39)	M154L	unknown	Het
Rpgrip1l	T	C	8: 91,946,833 (GRCm39)	E1256G	probably benign	Het
Rsph4a	A	G	10: 33,788,988 (GRCm39)	Q611R	probably benign	Het
Sorl1	T	C	9: 41,891,941 (GRCm39)	D1903G	possibly damaging	Het
Tmem39b	A	T	4: 129,580,619 (GRCm39)	V291D	probably damaging	Het
Unc79	A	C	12: 103,045,307 (GRCm39)	K685Q	probably damaging	Het
Unc79	A	T	12: 103,045,308 (GRCm39)	K685I	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r112	G	T	17: 22,822,450 (GRCm39)	S376I	possibly damaging	Het
Zfp850	A	T	7: 27,684,640 (GRCm39)	C35*	probably null	Het
Zfp974	A	G	7: 27,625,828 (GRCm39)	V14A	probably damaging	Het

Other mutations in Prkacb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00925:Prkacb	APN	3	146,453,797 (GRCm39)	missense	probably benign	0.01
IGL01330:Prkacb	APN	3	146,457,266 (GRCm39)	missense	probably damaging	1.00
IGL01419:Prkacb	APN	3	146,461,448 (GRCm39)	start codon destroyed	probably null	0.49
IGL02533:Prkacb	APN	3	146,438,451 (GRCm39)	missense	possibly damaging	0.64
foxhound	UTSW	3	146,451,133 (GRCm39)	missense	probably damaging	1.00
PIT4445001:Prkacb	UTSW	3	146,461,446 (GRCm39)	missense	probably benign	0.13
R0666:Prkacb	UTSW	3	146,457,273 (GRCm39)	missense	probably damaging	0.99
R2169:Prkacb	UTSW	3	146,452,438 (GRCm39)	splice site	probably null
R4559:Prkacb	UTSW	3	146,451,147 (GRCm39)	unclassified	probably benign
R4613:Prkacb	UTSW	3	146,443,753 (GRCm39)	missense	probably damaging	1.00
R4931:Prkacb	UTSW	3	146,453,732 (GRCm39)	missense	possibly damaging	0.91
R6474:Prkacb	UTSW	3	146,461,479 (GRCm39)	missense	probably damaging	1.00
R6505:Prkacb	UTSW	3	146,438,401 (GRCm39)	missense	probably damaging	1.00
R6864:Prkacb	UTSW	3	146,451,133 (GRCm39)	missense	probably damaging	1.00
R6940:Prkacb	UTSW	3	146,457,254 (GRCm39)	missense	probably damaging	1.00
R8979:Prkacb	UTSW	3	146,518,411 (GRCm39)	missense	probably benign	0.00
R9015:Prkacb	UTSW	3	146,456,239 (GRCm39)	missense	probably null	0.98
R9049:Prkacb	UTSW	3	146,461,518 (GRCm39)	splice site	probably benign
R9520:Prkacb	UTSW	3	146,456,289 (GRCm39)	missense	probably damaging	1.00
R9716:Prkacb	UTSW	3	146,463,475 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGCTGTGCTCACCTAGTAC -3'
(R):5'- AAAAGTCTCAGGTTTCTTTGTGGC -3'

Sequencing Primer
(F):5'- GTGCTCACCTAGTACTTCCTATGG -3'
(R):5'- TGGCTGGAATACTAAGGGGGTC -3'

Posted On

2018-07-23